Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and...
26 KB (3,021 words) - 16:43, 3 October 2023
Macrocephaly (redirect from Macrocephaly dominant type)
leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria. At one end of the genetic spectrum, duplications...
18 KB (1,722 words) - 07:10, 15 April 2024
Glutaryl-CoA dehydrogenase (redirect from EC 1.3.8.6)
gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results...
6 KB (836 words) - 01:17, 7 March 2024
Glutaconyl-CoA (redirect from Glutaconyl-1-CoA)
per mole. Glutaconyl-CoA is postulated to be the main toxin in glutaric aciduria type 1. In certain fermentative bacteria, glutaconyl-CoA decarboxylation...
5 KB (236 words) - 00:07, 17 July 2024
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats...
10 KB (957 words) - 18:47, 8 June 2024
Organic acidemia (redirect from Aciduria)
Marjorie; Duran, Marinus (2011). "Diagnosis and management of glutaric aciduria type I – revised recommendations". Journal of Inherited Metabolic Disease...
7 KB (711 words) - 07:18, 15 April 2024
reaction conditions. Glutaric, 3-hydroxyglutaric, and glutaconic acids are structurally related metabolites. In glutaric aciduria type 1, glutaconic acid...
4 KB (267 words) - 19:34, 16 July 2024
periaqueductal grey matter, brain stem, basal ganglia, and dentate nucleus. Glutaric aciduria type 1 (GA1): An autosomal recessive disease, GA1 is due to glutaryl-coenzyme...
19 KB (2,530 words) - 16:30, 16 August 2024
epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene). Hyperlysinuria is marked by high amounts...
68 KB (7,492 words) - 14:14, 22 June 2024